Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

511 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare.
Yasuda J, Kinoshita K, Katsuoka F, Danjoh I, Sakurai-Yageta M, Motoike IN, Kuroki Y, Saito S, Kojima K, Shirota M, Saigusa D, Otsuki A, Kawashima J, Yamaguchi-Kabata Y, Tadaka S, Aoki Y, Mimori T, Kumada K, Inoue J, Makino S, Kuriki M, Fuse N, Koshiba S, Tanabe O, Nagasaki M, Tamiya G, Shimizu R, Takai-Igarashi T, Ogishima S, Hozawa A, Kuriyama S, Sugawara J, Tsuboi A, Kiyomoto H, Ishii T, Tomita H, Minegishi N, Suzuki Y, Suzuki K, Kawame H, Tanaka H, Taki Y, Yaegashi N, Kure S, Nagami F; Tohoku Medical Megabank Project Study Group; Kosaki K, Sutoh Y, Hachiya T, Shimizu A, Sasaki M, Yamamoto M. Yasuda J, et al. Among authors: kosaki k. J Biochem. 2019 Feb 1;165(2):139-158. doi: 10.1093/jb/mvy096. J Biochem. 2019. PMID: 30452759
Multiple café au lait spots in familial patients with MAP2K2 mutation.
Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, Kosaki K. Takenouchi T, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2014 Feb;164A(2):392-6. doi: 10.1002/ajmg.a.36288. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311457 Review.
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
Maruoka R, Takenouchi T, Torii C, Shimizu A, Misu K, Higasa K, Matsuda F, Ota A, Tanito K, Kuramochi A, Arima Y, Otsuka F, Yoshida Y, Moriyama K, Niimura M, Saya H, Kosaki K. Maruoka R, et al. Among authors: kosaki k. Genet Test Mol Biomarkers. 2014 Nov;18(11):722-35. doi: 10.1089/gtmb.2014.0109. Epub 2014 Oct 17. Genet Test Mol Biomarkers. 2014. PMID: 25325900 Free PMC article. Clinical Trial.
Medical genetics and genomic medicine in Japan.
Suzuki H, Watanabe T, Uehara T, Kosaki K. Suzuki H, et al. Among authors: kosaki k. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):166-169. doi: 10.1002/ajmg.c.31702. Epub 2019 May 21. Am J Med Genet C Semin Med Genet. 2019. PMID: 31111991 Review.
Micropenis and the AR Gene: mutation and CAG repeat-length analysis.
Ishii T, Sato S, Kosaki K, Sasaki G, Muroya K, Ogata T, Matsuo N. Ishii T, et al. Among authors: kosaki k. J Clin Endocrinol Metab. 2001 Nov;86(11):5372-8. doi: 10.1210/jcem.86.11.7999. J Clin Endocrinol Metab. 2001. PMID: 11701709 Clinical Trial.
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Takahashi T, Fukushima Y, Kawame H, Kosaki K. Aramaki M, et al. Among authors: kosaki r, kosaki k. J Pediatr. 2006 Mar;148(3):410-4. doi: 10.1016/j.jpeds.2005.10.044. J Pediatr. 2006. PMID: 16615981
511 results